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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
CASQ1
(F40L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(K55N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(V66E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(A95T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(D114G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
CASQ1
(V137I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(E158*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CASQ1
(A172P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(L226P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(E233K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(D324N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(M361T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(D362H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ1
(I385T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CASQ1
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
CASQ1
(Q345*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
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